Canonical Allele Identifier: CA425616603
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29071022-T-G
MyVariant Identifiers: chr2:g.29293888T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071022T>G , CM000664.2:g.29071022T>G GRCh38
NC_000002.11:g.29293888T>G , CM000664.1:g.29293888T>G GRCh37
NC_000002.10:g.29147392T>G NCBI36
NG_021427.1:g.8240A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3240A>C MANE Select ENSP00000332809.4:p.Ala1080=
ENST00000331664.5:c.3240A>C ENSP00000332809.4:p.Ala1080=
NM_001029883.2:c.3240A>C NP_001025054.1:p.Ala1080=
XM_011532826.1:c.3240A>C XP_011531128.1:p.Ala1080=
XR_939901.1:n.185+1855T>G
XR_939902.1:n.173+1867T>G
NM_001029883.3:c.3240A>C MANE Select NP_001025054.1:p.Ala1080=